Canonical Allele Identifier: CA241398494

Gene:

Identifiers and link-outs to other resources

• dbSNP Id: rs7136572
• gnomAD: 12:95959788 A / G
• MyVariant Identifiers: chr12:g.95959788A>G (hg19) ; chr12:g.95566012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95566012A>G , CM000674.2:g.95566012A>G	GRCh38
NC_000012.11:g.95959788A>G , CM000674.1:g.95959788A>G	GRCh37
NC_000012.10:g.94483919A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000626376.2:n.219+14212A>G